GATAD2B gene

GATA zinc finger domain containing 2B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with mental retardation. [provided by RefSeq, Jun 2016]

From UniProt:

Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2A. Targets MBD3 to discrete loci in the nucleus. May play a role in synapse development.

From NCBI Gene:

  • Mental retardation, autosomal dominant 18

From UniProt:

Mental retardation, autosomal dominant 18 (MRD18): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD18 patients have severe intellectual disability and dysmorphic features. [MIM:615074]

Cytogenetic Location: 1q21.3, which is the long (q) arm of chromosome 1 at position 21.3

Molecular Location: base pairs 153,804,725 to 153,922,975 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q21.3, which is the long (q) arm of chromosome 1 at position 21.3
  • MRD18
  • P66beta
  • p68